Incidentalome

Gene: PSEN2

Green List (high evidence)

Well established rare cause of Alzheimer Disease.

PMID: 10652366: In vitro functional assay shows that a mutation in the PSEN2 gene causes an effect to the endoproteolytic processing of the transmembrane protein thus a loss of function to the transmembrane protein.

PMID: 7638622: (Article refers to gene in previously terminology of STM2)
N141I founder mutation was identified in 20 individuals from 5 Volgan German families.
The point mutation is present in the conserved human and mouse homolog (S182).

PMID: 12925374: A spanish individual identified with a T430M mutation (a common variant reported in the Latino/Admixed American population but at a low frequency [PopMax AF 0.01%]).

Created: 3 Apr 2023, 11:46 p.m. | Last Modified: 3 Apr 2023, 11:46 p.m.

Panel Version: 0.229

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Alzheimer Disease type 4 (MONDO:0011743; MIM#606889)

Publications

• 10652366
• 7638622
• 7651536
• 12925374